Duane syndrome type 1

Title

Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth.[1] People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted.[1][2] Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction.[1] The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs.[3] One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery.[1]

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition.
Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency).
Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Management of Duane syndrome is mainly supportive. It may involve treatment of amblyopia ("lazy eye"); wearing glasses or contact lenses; the use of prisms to correct for abnormal head posture; or possible eye muscle surgery.[3][4]

The majority of people with Duane syndrome do not need surgery.[5] However, surgery may be indicated if necessary to reduce severe misalignment of the eyes (strabismus); improve an unacceptable head position; treat a significant upshoot or downshoot; or fix displacement of the eyeball within the orbit (enophthalmos).[3][5]

Unfortunately, surgery does not restore function to the affected nerve and muscle, and no surgical technique has been completely successful in eliminating the abnormal eye movements.[3] Surgery for Duane syndrome usually involves adjusting the other eye muscles to compensate and allow for better eye alignment.[5] While it cannot fix the underlying problem, it can substantially improve signs or symptoms.[5] Some surgical procedures or combinations of procedures may be successful in improving or eliminating head turns and strabismus.[3]

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.

The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.

Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

PubMed is a searchable database of medical literature and lists journal articles that discuss Duane syndrome type 1. Click on the link to view a sample search on this topic.

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I am a 32 year old female with Duane syndrome type 1. My left eye does not turn towards my ear. I have been to an eye doctor once as an adult. Is there any possible surgery that would correct or treat this? I find it very embarrassing and I avoid looking left which is very difficult in everyday life.
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